The authors reported 3 cases of cherubism which included easily diangnosable cases with typical clinical and radio logic features and a difficult case in which a through study of familial factor contributed to final correct diagnosis.
Cherubism* ; Diagnosis ; Logic

The authors reported 3 cases of cherubism which included easily diangnosable cases with typical clinical and radio logic features and a difficult case in which a through study of familial factor contributed to final correct diagnosis.
Cherubism* ; Diagnosis ; Logic

We report the perioperative airway management in a 7-year-old boy suffering from Cherubism who was scheduled for endoscopic sinus surgery under general anesthesia. Cherubism is a rare, hereditary disorder of the jaws characterized by expansion of the maxilla and mandible. A difficult airway was encountered during induction of general anesthesia, nasal and oral mask pitting ventilation was hard for first attempts due to facial bony abnormality. At second attempt, we tried only oral mask pitting ventilation and it was successful.
Airway Management ; Anesthesia, General ; Cherubism ; Child ; Humans ; Jaw ; Mandible ; Masks ; Maxilla ; Stress, Psychological ; Ventilation

OBJECTIVETo investigate the clinicopathologic features of familial cherubism and its differentiation from other giant cell lesions in jaws and the results of surgical treatments with a long-term follow-up.

METHODSFour cases of familial cherubism were reviewed and their clinical and radiographic features, histopathologic appearance, biochemical markers and surgical treatments analysed.

RESULTSClinically, cherubism was characterized by bilateral painless swelling of jaws, mandibular deformity was common. Radiographs showed multilocular radiolucencies with sclerotic thickening border. Histopathologically, numerous randomly distributed multinucleated giant cells and vascular spaces within a fibrous connective tissue stroma with or without eosinophilic collagen perivascular cuffing were shown. The lesion regressed without treatment in 1 cases. Curettage was performed in 3 cases with good results.

CONCLUSIONSCherubism can be diagnosed according to its typical clinical and radiographical features with a positive family history. It might regress without treatment. But surgery intervention is suggested to improve physiological function and to solve the psychologic problem of the patients.

Adult ; Cherubism ; genetics ; pathology ; surgery ; Child ; Child, Preschool ; Humans ; Male ; Pedigree

OBJECTIVETo study genetic feature, clinical and histopathological characteristic of two Chinese kindreds with cherubism (CBM).

METHODSTwo Chinese kindreds with CBM were investigated. The affected individuals of two families were analyzed with medical history, clinical manifestations, classified grading system, radiographic assessment, histopathological findings, and hereditary nature.

RESULTSThere were 2 individuals affected with CBM in family A and 3 patients involving three generations in family B. Two probands were diagnosed aggressive form cherubism and classified as grade IV. In histopathological findings, besides varying numbers of multinucleated giant cells in a stroma of fibroblasts and the eosinophilic cuffing surrounding some vessels, actively proliferating areas with clear mitoschisis and relative dormant areas with loose fibrous tissue and bone were also presented in microscopic fields of the lesion.

CONCLUSIONSCherubism is caused by autosomal dominant inheritance. The diagnosis should be based on the genetic, clinical, radiological, and pathological aspects of the disease.

Adult ; Cherubism ; diagnostic imaging ; genetics ; pathology ; Child ; Female ; Follow-Up Studies ; Humans ; Male ; Pedigree ; Radiography

Cherubism is a rare familial disease of childhood, characterized by proliferative lesion, which is within the maxilla and mandible. In a typical case, painless symmetric expansile lesions develop in the jaws. It shows substitution of the bone by proliferating fibrous tissue exhibiting mature fibroblasts and a number of multinucleated giant cells within an intercellular matrix. Usually, the disease manifests in early childhood, and becomes more marked until puberty, at which time the bony lesions begin to regress. As such, conservative approaches to management are advisable. However, excision of tissue through enucleation or curettage appears to be necessary in more aggressive cases, to reduce the maxillofacial deformity after puberty and to ensure a successful outcome without the risk of progression, requiring additional resection. This report describes 2 cases of manifestation of cherubism of oral and maxillofacial region. We present diagnosis, radiological - histopathologic features, and treatment of cherubism.]]>
Cherubism ; Congenital Abnormalities ; Curettage ; Dietary Sucrose ; Fibroblasts ; Giant Cells ; Jaw ; Mandible ; Maxilla ; Puberty

OBJECTIVETo detect the mutation and expression of SH-3BP-2 in Chinese patients of cherubism and to investigate the possible relationship of gene mutation and multinucleated giant cells in lesions.

METHODSGenomic DNA was extracted from paraffin-imbedded tissues and peripheral blood samples of 10 cases of cherubism (6 familial cherubism and 4 sporadic cherubism). SH-3BP-2 mutations were detected by PCR-direct sequencing. The nature of multinucleated giant cells in lesions was detected by enzyme histochemical staining and immunohistochemical staining using paraffin-imbedded tissues sections. The SH-3BP-2 protein was detected by immunohistochemical staining.

RESULTSThree missense mutations (G1520A, G1505A, G1505C) in exon 9 of SH-3BP-2 were identified which led to 3 transitions (Gly420Glu, Arg415Gln, Arg415Pro). There were no abnormalities in exon 3 of SH-3BP-2 except 1 case which had not PCR products. The protein SH-3BP-2, the calcitonin receptor and the tartrate-resistant acid phosphatase were detected in the cytoplasm of all multinucleated giant cells and parts of monokaryon matrix cells in 8 paraffin-imbedded samples.

CONCLUSIONSThe SH-3BP-2 mutation may participate in the differentiation and maturation of osteoclast-like cells in the lesion of cherubism.

Adaptor Proteins, Signal Transducing ; genetics ; Base Sequence ; Cherubism ; genetics ; metabolism ; Giant Cells ; metabolism ; Humans ; Molecular Sequence Data ; Mutation ; Pedigree

OBJECTIVETo detect SH3BP2 gene mutation in a cherubism family.

METHODSPeripheral blood samples were obtained from the family of cherubism. Genomic DNA was extracted. Polymerase chain reaction and direct sequencing were performed to identify the mutation.

RESULTSA transition in exon 9 in SH3BP2 gene was detected in the family, which led to a missense mutation (Arg 415 Pro).

CONCLUSIONSMissense mutation in the SH3BP2 gene was responsible for the phenotypes of this Chinese cherubism family.

Adaptor Proteins, Signal Transducing ; genetics ; Adult ; Cherubism ; genetics ; Child ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Infant ; Male ; Middle Aged ; Mutation, Missense ; genetics ; Pedigree